Aliases for LDLRAP1 Gene
External Ids for LDLRAP1 Gene
Previous GeneCards Identifiers for LDLRAP1 Gene
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
GeneCards Summary for LDLRAP1 Gene
LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1) is a Protein Coding gene. Diseases associated with LDLRAP1 include Hypercholesterolemia, Familial, 4 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Lipoprotein metabolism and Endocytosis. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and amyloid-beta binding. An important paralog of this gene is NUMBL.
UniProtKB/Swiss-Prot Summary for LDLRAP1 Gene
Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).